Canonical Allele Identifier: CA357632833
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 873387
ClinVar RCV Id: RCV001095617 RCV002554878 RCV003151832 RCV003405299
dbSNP Id: rs1727420867
gnomAD v4: 4-88038381-G-A
COSMIC: COSM1717043
MyVariant Identifiers: chr4:g.88959533G>A (hg19) chr4:g.88038381G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038381G>A , CM000666.2:g.88038381G>A GRCh38
NC_000004.11:g.88959533G>A , CM000666.1:g.88959533G>A GRCh37
NC_000004.10:g.89178557G>A NCBI36
NG_008604.1:g.35714G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.974G>A MANE Select ENSP00000237596.2:p.Arg325Gln
ENST00000237596.6:c.974G>A ENSP00000237596.2:p.Arg325Gln
ENST00000506367.1:n.421G>A
NM_000297.3:c.974G>A NP_000288.1:p.Arg325Gln
XM_011532028.1:c.974G>A XP_011530330.1:p.Arg325Gln
XM_011532029.1:c.254G>A XP_011530331.1:p.Arg85Gln
XM_011532030.1:c.134G>A XP_011530332.1:p.Arg45Gln
XR_244632.2:n.1069G>A
NR_156488.1:n.1061G>A
XM_011532028.2:c.974G>A XP_011530330.1:p.Arg325Gln
XM_011532030.2:c.134G>A XP_011530332.1:p.Arg45Gln
NM_000297.4:c.974G>A MANE Select NP_000288.1:p.Arg325Gln
NR_156488.2:n.1073G>A
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